Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
Q13620 cullin 4B Enzyme 162 0.556 0.769 1.00 0.340 None 1.000 4 1 2010 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.200 None 0.957 47 10 2000 2013
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.200 None 1.000 15 1 1996 2017
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.200 None 1.000 11 2 1997 2019
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
P31629 HIVEP zinc finger 2 42 0.711 0.500 1.00 0.200 None 0 0
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
O60828 polyglutamine binding protein 1 Transcription factor 118 0.570 0.654 0.79 0.180 None 1.000 8 1 1992 2011
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.180 None 1.000 8 1 2000 2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.150 None 1.000 5 2 2007 2013
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
P51610 host cell factor C1 100 0.601 0.692 1.00 0.140 None 0.750 4 1 1992 2019
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.140 None 1.000 4 1 2006 2015
Entrez Id: 23133
Gene Symbol: PHF8
PHF8
Q9UPP1 PHD finger protein 8 75 0.631 0.577 1.00 0.130 None 1.000 3 3 2005 2010
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.120 None 1.000 2 1 2006 2008
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.120 None 1.000 2 2 2006 2009
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
Q9NZ94 neuroligin 3 63 0.653 0.462 0.98 0.120 None 1.000 2 1 2006 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.110 None 1.000 1 1 2011 2011
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
Q5JU85 IQ motif and Sec7 domain ArfGEF 2 155 0.573 0.577 1.00 0.110 None 1.000 1 1 1992 1992
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 145 0.584 0.577 1.00 0.110 None 1.000 1 1 2009 2009
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
Q71F56 mediator complex subunit 13L 94 0.617 0.538 1.00 0.110 None 1.000 1 1 2003 2003
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.100 None 0.990 104 0 1992 2017
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.100 None 1.000 40 0 2003 2014
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.100 None 0.970 33 0 1993 2011
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.100 None 0.875 32 0 1992 2009
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.100 None 0.957 23 1 2008 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 1.000 21 1 1992 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.100 None 1.000 20 0 1989 2019